Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.G494S
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SLC4A1

NM_000342.4:p.G494S

Associated Papers

Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.

Yang M et al.

Frontiers in Pediatrics, 2023

A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.

Wang D et al.

Nephron, 2019

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Watanabe T

Pediatric Health, Medicine and Therapeutics, 2018

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Reithmeier RA et al.

Biochimica Et Biophysica Acta, 2016

Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.

Zhang Z et al.

Archives of Medical Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."